Mutagenetix > Incidental Mutations

Incidental Mutation 'R3552:Washc2'

268992

Institutional Source

Beutler Lab

Gene Symbol

Washc2

Ensembl Gene

ENSMUSG00000024104

Gene Name

WASH complex subunit 2`

Synonyms

Fam21, D6Wsu116e, C530005J20Rik

MMRRC Submission

040669-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116208038-116262686 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116220568 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 168 (D168G)

Ref Sequence

ENSEMBL: ENSMUSP00000144703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036759] [ENSMUST00000203286] [ENSMUST00000203523] [ENSMUST00000203928] [ENSMUST00000204283] [ENSMUST00000204476]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036759
AA Change: D254G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: D254G

Domain	Start	End	E-Value	Type
coiled coil region	95	129	N/A	INTRINSIC
low complexity region	196	213	N/A	INTRINSIC
low complexity region	216	238	N/A	INTRINSIC
low complexity region	262	276	N/A	INTRINSIC
low complexity region	443	455	N/A	INTRINSIC
low complexity region	531	561	N/A	INTRINSIC
low complexity region	660	668	N/A	INTRINSIC
low complexity region	801	810	N/A	INTRINSIC
Pfam:CAP-ZIP_m	939	1074	4.3e-58	PFAM
low complexity region	1268	1282	N/A	INTRINSIC
low complexity region	1297	1317	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203161

Predicted Effect

probably benign
Transcript: ENSMUST00000203286

Predicted Effect

probably benign
Transcript: ENSMUST00000203523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203802

Predicted Effect

probably benign
Transcript: ENSMUST00000203928

Predicted Effect

probably damaging
Transcript: ENSMUST00000204283
AA Change: D168G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: D168G

Domain	Start	End	E-Value	Type
coiled coil region	9	43	N/A	INTRINSIC
low complexity region	110	127	N/A	INTRINSIC
low complexity region	130	152	N/A	INTRINSIC
low complexity region	176	190	N/A	INTRINSIC
low complexity region	357	369	N/A	INTRINSIC
low complexity region	445	475	N/A	INTRINSIC
low complexity region	574	582	N/A	INTRINSIC
low complexity region	715	724	N/A	INTRINSIC
Pfam:CAP-ZIP_m	853	988	2.8e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204476
AA Change: D254G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: D254G

Domain	Start	End	E-Value	Type
coiled coil region	95	129	N/A	INTRINSIC
low complexity region	196	213	N/A	INTRINSIC
low complexity region	216	238	N/A	INTRINSIC
low complexity region	262	276	N/A	INTRINSIC
low complexity region	443	455	N/A	INTRINSIC
low complexity region	531	561	N/A	INTRINSIC
low complexity region	660	668	N/A	INTRINSIC
low complexity region	801	810	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	Het

Other mutations in Washc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Washc2	APN	6	116256676	missense	probably benign
IGL00552:Washc2	APN	6	116256824	missense	possibly damaging	0.85
IGL01397:Washc2	APN	6	116247998	missense	probably benign	0.44
IGL01668:Washc2	APN	6	116262338	missense	probably damaging	1.00
IGL01982:Washc2	APN	6	116236189	missense	probably benign	0.22
IGL02022:Washc2	APN	6	116259165	missense	probably benign	0.22
IGL02150:Washc2	APN	6	116231632	splice site	probably benign
IGL02224:Washc2	APN	6	116220569	missense	possibly damaging	0.70
IGL02553:Washc2	APN	6	116241610	missense	probably damaging	0.98
IGL02555:Washc2	APN	6	116209100	missense	probably damaging	1.00
IGL02612:Washc2	APN	6	116220616	missense	possibly damaging	0.90
IGL02622:Washc2	APN	6	116214018	splice site	probably benign
IGL02900:Washc2	APN	6	116227474	missense	probably damaging	1.00
IGL03263:Washc2	APN	6	116238123	splice site	probably benign
fading	UTSW	6	116254153	missense	probably damaging	1.00
R0218:Washc2	UTSW	6	116248046	nonsense	probably null
R0285:Washc2	UTSW	6	116221839	missense	probably damaging	1.00
R0346:Washc2	UTSW	6	116220523	splice site	probably benign
R0677:Washc2	UTSW	6	116244616	missense	probably damaging	1.00
R0919:Washc2	UTSW	6	116208264	missense	probably damaging	1.00
R1144:Washc2	UTSW	6	116224534	missense	probably damaging	1.00
R1666:Washc2	UTSW	6	116223254	critical splice donor site	probably null
R1687:Washc2	UTSW	6	116256712	missense	probably benign	0.06
R1702:Washc2	UTSW	6	116229306	missense	probably damaging	0.99
R1740:Washc2	UTSW	6	116231632	splice site	probably benign
R1952:Washc2	UTSW	6	116255091	missense	possibly damaging	0.92
R1964:Washc2	UTSW	6	116208987	missense	probably damaging	0.99
R2039:Washc2	UTSW	6	116224439	missense	probably damaging	0.99
R3084:Washc2	UTSW	6	116227493	missense	probably benign	0.00
R3790:Washc2	UTSW	6	116247972	splice site	probably benign
R3949:Washc2	UTSW	6	116208204	utr 5 prime	probably benign
R4089:Washc2	UTSW	6	116256292	splice site	probably null
R4133:Washc2	UTSW	6	116258930	missense	probably damaging	0.99
R4258:Washc2	UTSW	6	116208241	missense	probably damaging	1.00
R4510:Washc2	UTSW	6	116220556	missense	probably damaging	1.00
R4511:Washc2	UTSW	6	116220556	missense	probably damaging	1.00
R4613:Washc2	UTSW	6	116229269	missense	probably damaging	1.00
R4614:Washc2	UTSW	6	116238174	missense	possibly damaging	0.83
R4794:Washc2	UTSW	6	116258649	missense	probably benign	0.03
R5224:Washc2	UTSW	6	116209004	makesense	probably null
R5367:Washc2	UTSW	6	116259150	missense	probably damaging	1.00
R5602:Washc2	UTSW	6	116248095	missense	possibly damaging	0.73
R6013:Washc2	UTSW	6	116254153	missense	probably damaging	1.00
R6075:Washc2	UTSW	6	116227366	missense	probably benign	0.02
R6086:Washc2	UTSW	6	116256216	splice site	probably null
R6344:Washc2	UTSW	6	116258758	missense	probably benign	0.08
R6593:Washc2	UTSW	6	116259249	missense	probably damaging	1.00
R7048:Washc2	UTSW	6	116220583	missense	possibly damaging	0.96
R7062:Washc2	UTSW	6	116219988	missense	possibly damaging	0.72
R7241:Washc2	UTSW	6	116208207	start codon destroyed	probably null	0.01
R7283:Washc2	UTSW	6	116227418	missense	probably damaging	0.99
R7681:Washc2	UTSW	6	116260657	missense	probably damaging	0.99
R7810:Washc2	UTSW	6	116259059	missense	probably benign
X0018:Washc2	UTSW	6	116208258	missense	probably null	0.96

Predicted Primers

PCR Primer
(F):5'- TGGTATTTGTATGCCAAGTCTCC -3'
(R):5'- TTGAGGAAGTCATCTACCGTTTACC -3'

Sequencing Primer
(F):5'- GTATGCCAAGTCTCCTAAAAATGAC -3'
(R):5'- GGAAGTCATCTACCGTTTACCTCTGG -3'

Posted On

2015-02-19